Results 191 to 200 of about 328,264 (242)

<i>PSG</i> and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning. [PDF]

Int J Mol Sci
Surimova V, Risinskaya N, Kotova E, Abdulpatakhov A, Vasileva A, Chabaeva Y, Starchenko S, Aleshina O, Kapranov N, Galtseva I, Ponomareva A, Kanivets I, Korostelev S, Kulikov S, Sudarikov A, Parovichnikova E.   +15 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Microarray analysis of the effects of Acthar Gel versus methylprednisolone in a model of focal segmental glomerulosclerosis in female rats. [PDF]

Physiol Rep
Hayes K, Wright D.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals. [PDF]

Mol Syndromol
Carrasco Salas P, Granell Escobar R, Serrano Mira A, Pérez Saldaña A, Cosculluela Vidal M, Garrido C, Vázquez Rico I.   +6 more
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis. [PDF]

BMC Pregnancy Childbirth
Chen Y, Cai M, Chen M, Pan X, Shen X, Song B, Cai X, Zhou L, Huang H.   +8 more
europepmc   +1 more source

Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis. [PDF]

Ann Med
Shi X, Huang Y, Ding H, Zhao L, He W, Wu J.   +5 more
europepmc   +1 more source

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

Equine Veterinary Journal, EarlyView.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska, Jowita Grzędzicka‐Agko, Paula Kiełbik, Michał Trela, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source